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Article

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.

Wiley interdisciplinary reviews. Developmental biology - 1 Jan 2000

Papangeli Irinna, Scambler Peter

Abstract excerpt

Hemizygous deletion of 22q11 affects approximately 1:4000 live births and may give rise to many different malformations but classically results in a constellation of phenotypes that receive a diagnosis of DiGeorge syndrome or velocardiofacial syndrome. Particularly affected are the heart and great vessels, the endocrine glands of the neck, the face, the soft palate, and cognitive development. Although up to 50...

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Source

Identifiers

PMID: 23799583
DOI: 10.1002/wdev.75

Genes

TBX1
CTNNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.PMID 23799583Read ↗

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.Semantic proximity Read ↗

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The Genetics and Epigenetics of 22q11.2 Deletion SyndromeSemantic proximity Read ↗

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Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.Semantic proximity Read ↗

A comprehensive analysis of 22q11 gene expression in the developing and adult brainSemantic proximity Read ↗

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosageSemantic proximity Read ↗

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.Semantic proximity Read ↗

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.Semantic proximity Read ↗

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.Semantic proximity Read ↗

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.Semantic proximity Read ↗

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